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investigator, and his colleagues showed that when two copies of mutated INPP5E are present in an individual, the result is Joubert syndrome, a condition marked by mental retardation and impaired balance. investigator, and his colleagues showed that when two copies of mutated INPP5E are present in an individual, the result is Joubert syndrome, a condition marked by mental retardation and impaired balance. Kaylee Wallace was born with Joubert syndrome, a rare malformation of the brain and brain stem that prevents her from breathing without a respirator when she sleeps. |
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